List of works - Arjan P M de Brouwer

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

scientific article

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

scientific article

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

scientific article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

scientific article published on 29 April 2012

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

scientific article

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scientific article

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

scientific article

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

scientific journal article

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

Clinical significance of de novo and inherited copy-number variation

scientific article published on 10 October 2013

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

scientific article published in February 2007

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

scientific article

Mutations in MED12 cause X-linked Ohdo syndrome

scientific article published on 7 February 2013

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

scientific article

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scientific article

PRPS1 mutations: four distinct syndromes and potential treatment.

scientific article

Arts syndrome is caused by loss-of-function mutations in PRPS1

scientific article

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

scientific article published on 17 September 2010

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

scientific article

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

scientific article

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts

scientific article published on January 2006

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

scientific article published on 8 May 2014

Genotype-phenotype correlations in MYCN-related Feingold syndrome

scientific article

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

scientific article

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

scientific article published in May 2014

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

scientific article

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

scientific article

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

scientific article

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

scientific article

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

scientific article

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

scientific article

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

scientific article published on 31 July 2013

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

scientific article

Neurologic aspects of MECP2 gene duplication in male patients

scientific article published in September 2009

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

scientific article published on 25 June 2008

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

scientific article

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

scientific article

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

scientific article published in May 2005

Variants in CUL4B are associated with cerebral malformations

scientific article

The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes?

scientific article published on December 1, 2011

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

scientific article published on 17 August 2017

Homozygosity mapping in outbred families with mental retardation

scientific article

List of works by Arjan P M de Brouwer

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

Development of a genotyping microarray for Usher syndrome

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Clinical significance of de novo and inherited copy-number variation

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

Mutations in MED12 cause X-linked Ohdo syndrome

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

PRPS1 mutations: four distinct syndromes and potential treatment.

Arts syndrome is caused by loss-of-function mutations in PRPS1

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

Genotype-phenotype correlations in MYCN-related Feingold syndrome

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

Neurologic aspects of MECP2 gene duplication in male patients

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

Variants in CUL4B are associated with cerebral malformations

The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes?

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Homozygosity mapping in outbred families with mental retardation